Rare Disease Library

Severe congenital hypochromic anemia with ringed sideroblasts

Severe congenital hypochromic sideroblastic anemia

Severe congenital nemaline myopathy

Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia

Sickle cell anemia

Homozygous hemoglobin S · Homozygous sickle cell anemia SS

Sideroblastic anemia

Simple cryoglobulinemia

Cryoglobulinemia type 1

Smith-Fineman-Myers syndrome

Syndromic agammaglobulinemia

Thiamine-responsive megaloblastic anemia syndrome

Rogers syndrome · TRMA

Thrombocytopenia with congenital dyserythropoietic anemia

XDAT · Congenital dyserythropoietic anemia with thombocytopenia

Thymoma-hypogammaglobulinemia syndrome

Good syndrome

Transient familial neonatal hyperbilirubinemia

Lucey-Driscoll syndrome

Transient hyperammonemia of the newborn

Transient hypogammaglobulinemia of infancy

Transient tyrosinemia of the newborn

Transient tyrosinemia of the neonate

Twin anemia-polycythemia sequence

TAPS

Typical nemaline myopathy

Tyrosinemia type 1

FAH deficiency · Fumarylacetoacetase deficiency

Tyrosinemia type 2

Keratosis palmoplantaris-corneal dystrophy syndrome · Oculocutaneous tyrosinemia

Tyrosinemia type 3

Tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency · Tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency

Waldenström macroglobulinemia

X-linked agammaglobulinemia

BTK-deficiency · Bruton type agammaglobulinemia

X-linked dyserythropoietic anemia with abnormal platelets and neutropenia

X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome

X-linked sideroblastic anemia

XLSA

X-linked sideroblastic anemia and spinocerebellar ataxia

Pagon-Bird-Detter syndrome · X-linked sideroblastic anemia with ataxia